A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features. (Q53228045)

12 May 2018

title

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features. (English)

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12 May 2018

author

Kim M Keppler-Noreuil

5

object named as

Kim M Keppler-Noreuil

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12 May 2018

Andrew B Cyr

1

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12 May 2018

Manjunath Nimmakayalu

2

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12 May 2018

Susannah Q Longmuir

3

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12 May 2018

Shivanand R Patil

4

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12 May 2018

Oleg A Shchelochkov

6

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12 May 2018

language of work or name

English

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publication date

3 August 2011

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12 May 2018

American Journal of Medical Genetics

published in

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12 May 2018

volume

155A

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12 May 2018

page(s)

2224-2228

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12 May 2018

issue

9

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12 May 2018

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

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3' end processing of Drosophila melanogaster histone pre-mRNAs: requirement for phosphorylated Drosophila stem-loop binding protein and coevolution of the histone pre-mRNA processing system

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LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients

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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

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Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

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Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells

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De novo rates and selection of large copy number variation

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Cdh1 controls the stability of TACC3.

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The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein

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The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.

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The TACC proteins: TACC-ling microtubule dynamics and centrosome function

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Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

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Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

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Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

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CRIPak, a novel endogenous Pak1 inhibitor

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Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L

21 January 2018

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Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development

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Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

21 January 2018

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Identifiers

DOI

10.1002/AJMG.A.34120

1 reference

12 May 2018

PubMed ID

21815251

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12 May 2018